Canonical Allele Identifier: CA412572459

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22094074T>C , CM000685.2:g.22094074T>C	GRCh38
NC_000023.10:g.22112192T>C , CM000685.1:g.22112192T>C	GRCh37
NC_000023.9:g.22022113T>C	NCBI36
NG_007563.2:g.66272T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000444.6:c.824T>C MANE Select	NP_000435.3:p.Leu275Pro
ENST00000379374.5:c.824T>C MANE Select	ENSP00000368682.4:p.Leu275Pro
NM_000444.5:c.824T>C	NP_000435.3:p.Leu275Pro
NM_001282754.1:c.824T>C	NP_001269683.1:p.Leu275Pro
NM_001282754.2:c.824T>C	NP_001269683.1:p.Leu275Pro
ENST00000379374.4:c.824T>C	ENSP00000368682.4:p.Leu275Pro
ENST00000475778.1:n.97T>C
ENST00000475778.2:n.1250T>C
ENST00000684143.1:c.821T>C	ENSP00000508264.1:p.Leu274Pro
ENST00000684745.1:n.498T>C
XM_011545533.1:c.68T>C	XP_011543835.1:p.Leu23Pro
XM_011545534.1:c.68T>C	XP_011543836.1:p.Leu23Pro
XM_011545535.1:c.824T>C	XP_011543837.1:p.Leu275Pro
XM_017029579.1:c.68T>C	XP_016885068.1:p.Leu23Pro
XM_024452390.1:c.533T>C	XP_024308158.1:p.Leu178Pro
XR_001755695.1:n.1503T>C